1. A number sign (#) is used with this entry because Fanconi anemia of Complementation group O (FANCO) is caused by homozygous mutation in the RAD51C gene (602774) on chromosome 17q22

2. A number sign (#) is used with this entry because D-Bifunctional protein deficiency can be caused by homozygous or compound heterozygous mutation in the HSD17B4 gene (601860) on chromosome 5q2, which encodes the D-Bifunctional protein (DBP)

3. A number sign (#) is used with this entry because glucocorticoid-remediable Aldosteronism (GRA), also referred to as glucocorticoid-suppressible hyperAldosteronism (GSH) or familial hyperAldosteronism type I (HALD1), is the result of an anti-Lepore-type fusion of the CYP11B2 and CYP11B1 genes (see 610613.0002)

4. A number sign (#) is used with this entry because of evidence that Reis-Bucklers corneal dystrophy (CDRB, or CDB1) is caused by heterozygous mutation in the TGFBI gene on chromosome 5q31.The TGFBI gene is mutant in several other forms of corneal dystrophy, including Thiel-Behnke corneal dystrophy (CDTB, or CDB2; 602082), lattice type I corneal dystrophy (CDL1; 122200), lattice …